Lisa Genet 2: Ieb Ucla 2 - 13

Front 1

poor feed, apnea, ketoacidosis, sz, hypoglycemia
-neonate - early childhood
? what's dx and prognosis
hypotonic-->opisthotonic

Back 1

MSUD; type I : poor prognosis
DX: plsma amino acids: leucine, isoluecine, valine are hi;
**Alloisoluecine - diagnostic
DUe: defect: branched chain alpha ketoacid

Front 2

MSUD tx:

Back 2

thaimine

Front 3

? genetics of OTC (ornithine carboxylase def)?

Back 3

X linked

Front 4

comat, irritable, poor feed, no dysmorphic features, very HI ammonia, rapid detioration;
-tx? prognosisis, DX?

Back 4

urea cycle d/o
-dx: hi ammonia, plasma amino acid pattern
Tx: low protein diet; meds to remove ammonia

Front 5

neonatal period, crash, ketoacidosis, hypoglycemia, HI ammnoia;
secondary: BM suppression; hi ammonia
DX:?

Back 5

Organic acidemia:
DX: plasma AA and URINE organic acids

Front 6

neonatal period, crash, ketoacidosis, hypoglycemia, HI ammnoia;
secondary: BM suppression; hi ammonia
DX:?

Back 6

methylmalonic acidemia;
Rx: B12, carnititine

Front 7

defect in propionl Co A carboxylase; biotin cofactor

Back 7

propionic acidemia;
Tx: biotin, carnitine

Front 8

*** hypoglycemia, 4-24 mo age
cause of SIDS; "Rye like syndrome"
DX: hypoketotic hypoglycemia; cant fast
? dx and tx

Back 8

MCAD: medium chain acyl Coa Dehydrogenase;
-cant make ketones
Tx: low fat diet, avoid fasting, carnititine, glucose during intercurrent illnesses

Front 9

prenatal/neonatal onset of intractable seizures
-born seizing " in utero hiccups"
? genetics DX?

Back 9

Nonketotic hyperglycinemia
AR- defect in glycine cleavage enzyme
Dx: Hi glycine in CSF /plasma AA

Front 10

abnormal hair/facies
-hypopigmentation, arterial tortuosity, rupture/subdural hematomas
-intractable sz
-hypothermia, osteoporosis, flared metaphyses, pathological fractures
Dx:?

Back 10

Menkes
Dx: low serum copper; copper metabolism d/o
genetics: X - linked

Front 11

-dislocated lens downward
-Marfanoid habitus, tall, lenky, MR, developmental delay (vs others)
-? cause; DX?

Back 11

Nonketotic hyperglycinemia
AR- defect in glycine cleavage enzyme
Dx: Hi glycine in CSF /plasma AA

Front 12

?Dx homocystinuria?

Back 12

plasma homocystine levels (vs marfan's - nl developement; Bishoy)

Front 13

liver failure, jaundice, rental tubular dysfxn, more severe

Back 13

tyrosinemia; Type I;
-AR, tx: diet restriction, palliative, liver transplant; NTBC

Front 14

corneal dystrophy, erosions, keratosis of palms/soles, MR; ? genetics, dx?

Back 14

tyrosinemia II; AR
DX: plasma AA and urine organic acids succinylacetone
Tx: low phe, low tyr diet

Front 15

most common d/o of AA metabolism
DX and genetics ?

Back 15

PKU
AR

Front 16

sz, autism, untreated, severe MR (IQ < 40), eczmea, sz
? tx? and dx?

Back 16

PKU,
tX: low PHe diet,
-prental dx: DNA

Front 17

Misccariage, micorcephaly and MR in NB, IUGRE
-Cong Heart diz, cleft palate, dysmorphic facies in NB;
what diz did mom have? and how do you prevent?

Back 17

Maternal PKU
--prevented giving proper diet prior to CONCEPTION

Front 18

Name 3 carbohydrate metabolism d/o?

Back 18

-glycogen storage d/z: liver and/or muscle probs
-d/o of fructose metabl: hypolycemia or benign
-galactosemias: liver and CNS or lense +/- CNS

Front 19

heptaomegaly, hypoglcyemia
-cherubic or doll-like facies, growth impairment- short; HPM (all of sudden big abd)
-whats genetics and tx?

Back 19

glycogen storage (GSD)
-AR
Tx: cornstarch, nocturnal enteral feeds

Front 20

nephromegaly, kidney diz, hepatic probls,
-lactic acidosis, Hi uric acid ? tx?
-Hi TG/ what 's enzyme and Dx?

Back 20

Von Gierke: glucose 6 phosphatase; I A : GSD
hi uric acid: allopurinal

Front 21

severe FTT, cirrhosis, death by 5,; ? tx

Back 21

andersen, branching enzyme: amylopectnosis: type IV

Front 22

Name 3 carbohydrate metabolism d/o?

Back 22

IB GSD:

Front 23

skeletal and/or cardiomyopathy, hi lipids, and transaminases

Back 23

Cori/Forbes:glycogen debrancher enzyme
-GSD; type III

Front 24

Rapidly fatal in infancy, massive cardiomegal, macroglossia
-slowly progressive, skeletal myopathy; childhood-adulthood;
-what's name, enzyme?

Back 24

Pompe's ***alphagluosidase (acid maltase) defeciency
-lysosomal storage diz

Front 25

Muscle pain, exercise intolerance; fatigue, progressiv weakness, rhabodmyolsis, myoglobinuria
-no increase in lactate w/ exercise **
Dx and enzyme defic?

Back 25

McArdle
-muscle phosphorylase deficiency
-M. cramping

Front 26

hypoglyemia, hyperventilation, ketoacidosis, lactic acidemia,
-irritable, somnolence, coma, apnea
-moderate HPM; ? tx? and ezyme?

Back 26

fructose 1,6 bisphosphatase (fructose diphosphatase) deficiency

Front 27

HPM, jaundice, heptaic failure
-prox renal tubular dysfx,
-hypoglycemia, hypophosphatemia after fructose load
-what enzyme/dx?

Back 27

IB GSD:

Front 28

-Jaundice, HPM, vomiting, Diarhea
-cataracts, developemental delay, verbal dyspraxia
~ E.coli sepsis
-what enzyme/name?

Back 28

-Galactosemia
-galactose 1 phosphate uridyltransferase deficiency
Tx: galactose free diet prevents liver diz and e.coli sepsis

Front 29

later in life, what do girls w/ galactoseima have?

Back 29

ovairan dysfnx, cataracts

Front 30

choreoathetosis, sompulsive self mutliation, MR
-Hi uric acid-->gouty arthritis in adulthood
-? genetics and enzyme?

Back 30

Lesch-nyhan syndrome:
-hypoxanthineguanine phosphoribosyltransferase deficiency
-x-LINKED ***

Front 31

-CNS; retina, liver or spleen probs; depending on where storage occuring
0? incomplete degradation of cell contents in lysosomes
-genetics?

Back 31

lysoomal stoarge d/o
-AR

Front 32

coarse facial features, HPM, splenomegaly, corneal clouding
-cherry red macula
? DX? enzyme?

Back 32

lipid storage d/o
DX: conjunctival biopsy, urine screen, DNA enzyme activity

Front 33

normal developmental until 4-5 mo age, early cherry red macula
-hyperacusis, progressive spasticity, hyperreflexia
-MACROcephaly, doll-like facies
-sz, motor weakness;
-What's enzyme ? and dx?

Back 33

GM 2 GAngliosidosis: Tay Sachs and Sanhoff
- due to hexosamindase A deficiency
-usu die; Jewish population

Front 34

most common lysosomal storage d/o?
-what's the enzyme and what accumulates?

Back 34

Gaucher
-defect: Beta glucosidase
-accumulate: glucocerboside (glycosylceramid)
Tx: BMT; enzyme replacement therapy

Front 35

adult form: HPSM; pancytopenia, bony pain, no CNS involvement
-whats the enzyme and what accumulates?

Back 35

Gaucher type I
defect: Beta glucosidase
-accumulate: glucocerboside (glycosylceramid)
Tx: BMT; enzyme replacement therapy

Front 36

Infantile form : acute neuropathic form
-hydrops fetalis, neurological involvement (6 mo)
-strabismus, trismus, retroflexion of head, sz, spasticity
-HPSM; death by 1-23 mo
-whats the enzyme and what accumulates?

Back 36

Lysosomal storage d/o
Gaucher type II
defect: Beta glucosidase
-accumulate: glucocerboside (glycosylceramid)
Tx: BMT; enzyme replacement therapy

Front 37

coarse facies, stunted growth, macroglossia, clouded cornea, HPSM, umbilical hernia, skeletal deformities; +/- MR
-How Dx? what's 2 dx? and difference

Back 37

mucopolysaccharidosies
-Dx: urinary mucopolysaccharides
-MPS I: Hurler:
MPS II: Hunter: X-linked (must see where going - to shoot): no corneal clouding

Front 38

-CNS; retina, liver or spleen probs; depending on where storage occuring
0? incomplete degradation of cell contents in lysosomes
-genetics?

Back 38

pryidoxine (B 6)

Front 39

cofactor ? biotinidiase deficiency and propionic acidemia

Back 39

Biotin

Front 40

cofactor ~ MSUD

Back 40

Thiamine

Front 41

cofactor ~ methylmalonic acidemia

Back 41

Vitamin B12

Front 42

All are x-linked except?
L. nyhan, menkes, ornithin, propionic acdiemia?

Back 42

Propionic acidemia - AR

Front 43

Cataracts ~ which one? '
-Homocystinuria, galactosemia, Marfan, Tay Sach

Back 43

Gaucher type I
defect: Beta glucosidase
-accumulate: glucocerboside (glycosylceramid)
Tx: BMT; enzyme replacement therapy

Front 44

cherry red macula~

Back 44

Tay sacchs